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rs121908815

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908815(C;T)
Make rs121908815(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position96265306
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908815
ebirs121908815
HLIrs121908815
Exacrs121908815
Varsomers121908815
Maprs121908815
PheGenIrs121908815
hapmaprs121908815
1000 genomesrs121908815
hgdprs121908815
ensemblrs121908815
gopubmedrs121908815
geneviewrs121908815
scholarrs121908815
googlers121908815
pharmgkbrs121908815
gwascentralrs121908815
openSNPrs121908815
23andMers121908815
23andMe allrs121908815
SNP Nexus

SNPshotrs121908815
SNPdbers121908815
MSV3drs121908815
GWAS Ctlgrs121908815
Max Magnitude0
ClinVar
Risk rs121908815(T;T)
Alt rs121908815(T;T)
Reference rs121908815(C;C)
Significance Probable-Pathogenic
Disease Pheochromocytoma
Variation info
Gene TMEM127 CIAO1
CLNDBN Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96931044G>A
CLNSRC ClinVar
CLNACC RCV000114835.1,


[PMID 21156949] Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

OMIM171300
Desc
Variant
Relatedalso